CHIC2

Chr 4ADSomatic

cysteine rich hydrophobic domain 2

Also known as: BTL

NCBI Gene: 26511ENSG00000109220UniProt: Q9UKJ5OMIM: 604332

This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Leukemia, acute myeloid}MIM #601626
ADSomatic

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.542
Z-score 2.49
OE 0.18 (0.07–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.47Z-score
OE missense 0.55 (0.44–0.70)
48 obs / 86.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.07–0.58)
0≤0.351.4
Missense OE?0.55 (0.44–0.70)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 2 / 10.8Missense obs/exp: 48 / 86.6Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CHIC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients